Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://www.nature.com/articles/s10038-023-01200-x.pdf
Reference17 articles.
1. Harding AE. Clinical features and classification of inherited ataxias. Adv Neurol. 1993;61:1–14.
2. Dueñas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006;129:1357–70.
3. Susan Perlman MD. Hereditary ataxia overview. GeneReviews ® [Internet]. Initial posting: 1998, Last Update: 2022.
4. Sun YM, Lu C, Wu ZY. Spinocerebellar ataxia: relationship between phenotype and genotype—a review. Clin Genet. 2016;90:305–14.
5. Tsuji S, Onodera O, Goto J, Nishizawa M. Study Group on Ataxic Diseases. Sporadic ataxias in Japan – a population-based epidemiological study. Cerebellum. 2008;7:189–97.
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